Autosomal recessive spastic paraplegia type 60

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Autosomal recessive spastic paraplegia type 60

Synonyms: SPG60

Autosomal recessive spastic paraplegia type 60 is a rare complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity inability to walk hypertonia and impaired vibration sense at ankles with complicating signs including sensory impairment nystagmus motor axonal neuropathy and mild intellectual disability.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Autosomal recessive spastic paraplegia type 60?

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Advocacy Organizations

Eleanor Kaplan Foundation Inc.

The Eleanor Kaplan Foundation or TeamLeni, is a 501c3 to raise awareness, fund and establish research programs and develop curative therapeutics for SPG49 and all TECPR2 related disorders.

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

For a list of clinical trials in this disease area, please click here.